ClinVar Miner

Submissions for variant NM_012216.4(MID2):c.1432C>T (p.Arg478Ter)

gnomAD frequency: 0.00002  dbSNP: rs200917006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843845 SCV002103020 likely pathogenic Intellectual disability, X-linked 101 2021-12-15 criteria provided, single submitter clinical testing PVS1_strong, PM2

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